Goldenhar syndrome

Goldenhar Syndrome

Goldenhar Syndrome

Goldenhar Syndrome, also known as Oculo-Auriculo-Vertebral (OAV) syndrome, is a rare congenital condition characterized by the incomplete development or absence of facial structures, primarily affecting one side of the face.

Overview

Goldenhar Syndrome is a birth defect that leads to abnormalities in the structure of the face. Affected individuals may have partially formed or absent ears, nose, lip, mandible (lower jaw), and/or soft palate. The condition can vary in severity and can be associated with other health issues.

Etiology

The exact cause of Goldenhar Syndrome is not fully understood, but it is believed to be a combination of genetic and environmental factors. There is no known single cause, and the condition occurs sporadically.

Clinical Features

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Facial Abnormalities

Facial abnormalities in Goldenhar Syndrome can include underdeveloped facial muscles, a partially formed or absent external ear (microtia), and underdevelopment of the mandible (micrognathia).

Ocular Abnormalities

Ocular abnormalities may include coloboma (a defect in the eye structure), microphthalmia (small eyes), and anophthalmia (absence of one or both eyes).

Vertebral Abnormalities

Vertebral abnormalities such as scoliosis (curvature of the spine) and hemivertebrae (abnormally shaped vertebrae) are also common.

Diagnosis

Diagnosis of Goldenhar Syndrome is typically made based on physical examination and may be confirmed with imaging studies such as X-rays or MRI.

Treatment

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Goldenhar syndrome

Treatment for Goldenhar Syndrome is multidisciplinary and may involve surgical intervention, speech therapy, orthodontic treatment, and other supportive therapies depending on the individual's needs.

Prognosis

The prognosis for individuals with Goldenhar Syndrome varies depending on the severity of the condition and associated complications. Many individuals lead full, productive lives with appropriate medical and surgical management.

Resources and Support

Support for individuals and families affected by Goldenhar Syndrome is available through organizations like the Goldenhar Syndrome Association and other support groups.

Goldenhar syndrome Resources
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